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The congenital heart defect known as aortic stenosis consists of a narrowed, malformed aortic valve. This is the valve that leads from the main pumping chamber of the heart (ventricle) to the main artery to the body (aorta). In aortic stenosis, there is narrowing and partial to near-total blockage of blood flow from the heart to the body. The blockage may involve thicked, abnormal valve flaps ("leaflets") or webs of tissue just above the valve (supravalvular aortic stenosis) or just below the valve, within the ventricle (subvalvular aortic stenosis).
This malformation leads naturally to decreased pumping effectiveness of the heart. Severe malformations are detected in the first few weeks of life ("critical aortic stenosis") and can lead rapidly to heart failure and death. Other children with less severe blockage are often first discovered later in life when a murmur is heard during physical examination. Newborn infants may have a very faint murmur because of low cardiac output. Treatment is usually at least initially by "balloon valvuloplasty." In this procedure a catheter (slender plastic tube) which contains an inflatable balloon is placed such that when the balloon is forcibly inflated, the valvular obstruction is torn open. Eventually, surgical replacement of the valve is accomplished when the patient is older and the procedure easier and safer.